| Autor: |
Schultheiss, Michael, Ruf, Rainer G., Mucha, Bettina E., Wiggins, Roger, Fuchshuber, Arno, Lichtenberger, Anne, Hildebrandt, Friedhelm |
| Předmět: |
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| Zdroj: |
Pediatric Nephrology; Dec2004, Vol. 19 Issue 12, p1340-1348, 9p |
| Abstrakt: |
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. In 26% of cases it is caused by recessive mutations inNPHS2(podocin). Congenital nephrotic syndrome (CNS) is caused by mutations inNPHS1(nephrin) orNPHS2. In three families mutations inNPHS1andNPHS2had been reported to occur together, and these tri-allelic mutations were implicated in genotype/phenotype correlations. To further test the hypothesis of tri-allelism, we examined a group of 62 unrelated patients forNPHS1mutations, who were previously shown to haveNPHS2mutations; 15 of 62 patients had CNS. In addition, 12 CNS patients withoutNPHS2mutation were examined forNPHS1mutations. Mutational analysis yielded three different groups. (1) In 48 patients with two recessiveNPHS2mutations (11 with CNS), noNPHS1mutation was detected, except for 1 patient, who had oneNPHS1mutation only. This patient was indistinguishable clinically and did not have CNS. (2) In 14 patients with oneNPHS2mutation only (4 with CNS), we detected two additional recessiveNPHS1mutations in the 4 patients with CNS. They all carried the R229Q variant ofNPHS2. The CNS phenotype may be sufficiently explained by the presence of twoNPHS1mutations. (3) In 12 patients withoutNPHS2mutation (all with CNS), we detected two recessiveNPHS1mutations in 11 patients, explaining their CNS phenotype. We report ten novel mutations in the nephrin gene. Our data do not suggest any genotype/phenotype correlation in the 5 patients with mutations in both theNPHS1and theNPHS2genes. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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